China Education Equipment Purchasing Network News: According to Beijing Yanji Biological Reagent Co., Ltd., two research groups from the United States recently used high-throughput next-generation sequencing technology to analyze the genomes of head and neck squamous cell carcinoma samples collected in order to Further understanding of the pathogenesis of head and neck squamous cell carcinoma provides new clues. Two research papers were published simultaneously in the latest issue of Science.
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Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1. Agrawal et al., 333 (6046): 1154-1157
The Mutational Landscape of Head and Neck Squamous Cell Carcinoma. Stransky et al., 333 (6046): 1157-1160
Globally, Squamous cell carcinomas of the head and neck (HNSCCs) is the sixth most common type of malignant tumor, with more than 600,000 new cases each year. Squamous cell carcinoma of the head and neck in the general sense refers to the occurrence of malignant tumors in the mouth, pharynx (nasopharynx, oropharynx, hypopharynx) and larynx covered by squamous epithelium. In addition to non-keratotic nasopharyngeal carcinoma, tobacco and alcohol are the main causes of head and neck squamous cell carcinoma. Recent studies have found that human papillomavirus (HPV) is also directly related to the occurrence of certain head and neck squamous cell carcinomas, especially oropharyngeal carcinoma. At present, the early stage of treatment for patients with head and neck squamous cell carcinoma is mainly surgery or radiotherapy, and the late stage patients are mainly receiving chemotherapy combined with local radiotherapy. Nevertheless, only 40-50% of patients can maintain a 5-year survival period.
The genetic factor that causes cancer cells to behave differently than normal cells is that there are some mutations in the cancer cell genome. With the tremendous development and breakthrough of second-generation sequencing technology in terms of cost and data output, scientists can obtain the genes that have mutations in cancer cells by comparing the genomes of different cancer cells and normal cells, and also understand the occurrence of these mutations. The order of the sequence, combined with the viewpoint of evolution, infers the evolution of the tumor more directly.
In the first article, Agrawal et al. From the Johns Hopkins University School of Medicine analyzed the 32 primary head and neck squamous cell carcinoma samples using whole exome sequencing and gene copy number analysis. Six gene mutations related to the occurrence of head and neck squamous cell carcinoma were identified. In addition to the previously known TP53, CDKN2A, PIK3CA and HRAS, FBXW7 and NOTCH1 were the new gene mutations discovered this time. In another group of 88 head and neck squamous cell carcinoma samples, Agrawal et al. Repeated the verification of this result.
In another article, Stransky from the Broad Institute of MIT and Harvard et al. Analyzed the exome sequencing of 74 head and neck squamous cell carcinoma and healthy tissue samples. In addition to the TP53, CDKN2A, PIK3CA, PTEN and HRAS genes, the researchers also found a large number of new genes related to head and neck squamous cell carcinoma. The researchers confirmed that 30% of the mutated genes in tumor samples are involved in regulating the squamous differentiation of epithelial cells, including NOTCH1, IRF6 and TP63.
In both research papers, the researchers confirmed that the NOTCH1 gene is closely related to head and neck squamous cell carcinoma-the inactivation mutation of the NOTCH1 gene exists in 10-15% of tumors, which is second only to the TP53 gene in tumors The second most frequently discovered mutant gene.
The new research findings provide important research data for scientists to deeply understand the causes of head and neck squamous cell carcinoma, find effective cancer treatment targets, and promote the development of individualized treatment strategies.
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